Variant (rsID / SNP)

rs141140309

rs141140309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TFR2. Location: chromosome 7, position 100,218,714. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TFR2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:100218714
Cytoband: 7q22.1
HGVS: NM_003227.4(TFR2):c.2172A>G (p.Pro724=)
Allele change: Synonymous_P724P

Associated conditions / phenotypes

Hereditary hemochromatosis|Hemochromatosis type 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.